In other words, diagnosing autism retains an element of subjectivity. The still-changing and evolving criteria for autism add to the challenge and, too, the confusion. Researchers have been hopeful that genetic studies might point to a possible biomarker for autism.
Jonathan Sebat, a professor of psychiatry and cellular and molecular medicine at the University of California, San Diego who was not involved in the three new studies, describes the studies not as a “breakthrough, because we knew this was coming” but as a “turning point.” Sebat said that “in the next year or two” we can likely expect to find “20, 30, maybe more such mutations.”
Like previous genetic studies about autism, the new studies have found rare genetic mutations in only a very few individuals vs. some “autism gene” in many individuals. Developing therapies from the new studies’ findings is a long way off. What the new studies, and future studies like them, may end up telling us is that “what is known generally as autism may represent a broad category of related but biologically distinct conditions.” Finding a biomarker that would definitely say “this child is autistic” remains elusive.
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